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ECD
MCID: ATR001
MIFTS: 56

Atrioventricular Septal Defect (ECD)

Categories: Cardiovascular diseases, Genetic diseases, Muscle diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Atrioventricular Septal Defect

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MalaCards integrated aliases for Atrioventricular Septal Defect:

Name: Atrioventricular Septal Defect 57 12 76 53 37 29 55 6 15
Atrioventricular Canal Defect 57 12 29 6
Atrioventricular Septal Defect, Susceptibility to, 1 57 13
Endocardial Cushion Defect 57 12
Avsd 57 12
Avcd 57 12
Ecd 57 12
Atrioventricular Canal Defect; Avcd 57
Atrioventricular Septal Defect 1 57
Endocardial Cushion Defect; Ecd 57
Septal Defect, Atrioventricular 40
Endocardial Cushion Defects 44
Avc Defect 57

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Cardiovascular diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

OMIM 57 606215
Disease Ontology 12 DOID:0050651
ICD10 33 Q21.2
ICD9CM 35 745.6 745.60
MeSH 44 D004694
SNOMED-CT 68 15459006
MedGen 42 C1389016
KEGG 37 H00547
UMLS 73 C0014116
Sources

Summaries for Atrioventricular Septal Defect

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OMIM : 57 The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006). AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (190685), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (208530) (summary by Carmi et al., 1992). (606215)

MalaCards based summary : Atrioventricular Septal Defect, also known as atrioventricular canal defect, is related to partial atrioventricular canal and ventricular septal defect 1. An important gene associated with Atrioventricular Septal Defect is SMARCAL1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A Like 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Cardiac Progenitor Differentiation. The drugs Fentanyl and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and testes, and related phenotypes are cellular and growth/size/body region

Disease Ontology : 12 A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.

Wikipedia : 76 Atrioventricular septal defect (AVSD) or atrioventricular canal defect (AVCD), also known as "common... more...

Sources

Related Diseases for Atrioventricular Septal Defect

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Diseases in the Atrioventricular Septal Defect family:

Atrioventricular Septal Defect 3 Atrioventricular Septal Defect 2
Atrioventricular Septal Defect 4 Atrioventricular Septal Defect 5

Diseases related to Atrioventricular Septal Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 174)
# Related Disease Score Top Affiliating Genes
1 partial atrioventricular canal 33.1 CRELD1 GATA4 GATA6
2 ventricular septal defect 1 32.3 AVSD1 GATA4
3 complete atrioventricular canal-tetralogy of fallot syndrome 31.0 CRELD1 GATA4
4 complete atrioventricular canal-left heart obstruction syndrome 31.0 CRELD1 GATA4
5 complete atrioventricular canal-ventricle hypoplasia syndrome 30.9 CRELD1 GATA4 GATA6
6 transposition of the great arteries 30.5 GDF1 NKX2-5
7 hypoplastic left heart syndrome 1 30.1 FOXP1 GJA1
8 tricuspid atresia 30.0 CRELD1 GDF1 NKX2-6
9 ventricular septal defect 29.8 EVC GATA4 GATA6 GDF1 NKX2-5 NKX2-6
10 atrial heart septal defect 29.8 CRELD1 EVC GATA4 GATA6 GDF1 NKX2-5
11 ebstein anomaly 29.8 GATA4 GDF1 NKX2-5 NKX2-6
12 patent ductus arteriosus 1 29.8 CRELD1 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
13 double outlet right ventricle 29.7 CRELD1 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
14 holt-oram syndrome 29.7 NKX2-5 TBX1 TBX5
15 tetralogy of fallot 29.6 CRELD1 EDN1 GATA4 GATA6 GDF1 GJA1
16 hypoplastic left heart syndrome 29.6 FOXP1 GJA1 NKX2-5 NKX2-6
17 heart disease 28.3 CRELD1 EDN1 EVC EVC2 GATA4 GATA6
18 atrioventricular septal defect 4 12.7
19 atrioventricular septal defect 5 12.7
20 atrioventricular septal defect 2 12.7
21 atrioventricular septal defect 3 12.6
22 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy 12.4
23 atrioventricular septal defect with blepharophimosis and anal and radial defects 12.3
24 erdheim-chester disease 12.2
25 complete atrioventricular canal 11.8
26 ritscher-schinzel syndrome 1 11.7
27 atrial heart septal defect 7 11.5
28 right atrial isomerism 11.4
29 atrial septal defect 7 with or without atrioventricular conduction defects 11.3
30 split-hand/foot malformation 1 11.2
31 heterotaxy, visceral, 6, autosomal 11.2
32 chaotic atrial tachycardia 11.2
33 ellis-van creveld syndrome 11.2
34 atrial septal defect 2 11.2
35 chromosome 3pter-p25 deletion syndrome 11.2
36 8p23.1 duplication syndrome 11.2
37 chromosome 8p23.1 deletion 11.2
38 hemifacial atrophy, progressive 11.1
39 down syndrome 10.6
40 pulmonary hypertension 10.4
41 cor triatriatum 10.4
42 atrial septal defect ostium primum 10.4
43 pulmonic stenosis 10.3
44 heterotaxy 10.3
45 lipogranulomatosis 10.2
46 pulmonary hypertension, primary, 1 10.2
47 heterotaxy, visceral, 1, x-linked 10.2
48 mitral valve insufficiency 10.2
49 aortic coarctation 10.2
50 aortopulmonary window 10.2

Graphical network of the top 20 diseases related to Atrioventricular Septal Defect:



Diseases related to Atrioventricular Septal Defect
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Symptoms & Phenotypes for Atrioventricular Septal Defect

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Clinical features from OMIM:

606215

MGI Mouse Phenotypes related to Atrioventricular Septal Defect:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 CRELD1 EVC EVC2 GATA4 GATA6 GDF1
2 growth/size/body region MP:0005378 10.22 EDN1 EVC EVC2 GATA4 GATA6 GDF1
3 cardiovascular system MP:0005385 10.19 CRELD1 EDN1 GATA4 GATA6 GDF1 GJA1
4 embryo MP:0005380 10.13 CRELD1 EDN1 GATA4 GATA6 GDF1 GJA1
5 mortality/aging MP:0010768 10.13 CRELD1 EDN1 EVC EVC2 GATA4 GATA6
6 craniofacial MP:0005382 10.06 CRELD1 EDN1 EVC EVC2 GDF1 GJA1
7 limbs/digits/tail MP:0005371 9.91 EVC EVC2 GATA4 GATA6 GJA1 TBX1
8 normal MP:0002873 9.85 EDN1 EVC2 GATA4 GATA6 GDF1 GJA1
9 muscle MP:0005369 9.8 EDN1 GATA4 GATA6 GJA1 NKX2-5 TBX1
10 respiratory system MP:0005388 9.5 GATA4 GATA6 GDF1 GJA1 NKX2-5 NKX2-6
11 skeleton MP:0005390 9.28 EDN1 EVC EVC2 GATA4 GDF1 GJA1
Sources

Drugs & Therapeutics for Atrioventricular Septal Defect

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Drugs for Atrioventricular Septal Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2 437-38-7 3345
2
Dexmedetomidine Approved, Vet_approved Phase 2 113775-47-6 68602 5311068
3
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
4 Analgesics, Non-Narcotic Phase 2,Not Applicable
5 Anesthetics, General Phase 2
6 Analgesics Phase 2,Not Applicable
7 Adrenergic alpha-Agonists Phase 2
8 Peripheral Nervous System Agents Phase 2,Not Applicable
9 Citrate Phase 2
10 Calcium, Dietary Phase 2
11 Anticoagulants Phase 2
12 Analgesics, Opioid Phase 2
13 Adjuvants, Anesthesia Phase 2
14 Narcotics Phase 2
15 Anesthetics, Intravenous Phase 2
16 Adrenergic alpha-2 Receptor Agonists Phase 2
17 Central Nervous System Depressants Phase 2
18 Adrenergic Agonists Phase 2
19 Adrenergic Agents Phase 2
20 Neurotransmitter Agents Phase 2
21 Chelating Agents Phase 2
22 Anesthetics Phase 2
23 Hypnotics and Sedatives Phase 2
24 Dextrans Phase 2
25 Pharmaceutical Solutions Phase 2
26 Blood Substitutes Phase 2
27 Plasma Substitutes Phase 2
28
Nitric Oxide Approved Phase 1 10102-43-9 145068
29 carnitine Phase 1
30
Mechlorethamine Approved, Investigational 51-75-2 4033
31
Acetaminophen Approved Not Applicable 103-90-2 1983
32 Antipyretics Not Applicable

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Study of Triostat in Infants During Heart Surgery Completed NCT00027417 Phase 3 Liothyronine sodium/triiodothyronine
2 Intravenous L-Citrulline to Treat Children Undergoing Heart Bypass Surgery : Revised Protocol Completed NCT01120964 Phase 1, Phase 2 Intravenous L-Citrulline;Placebo of Intravenous L-Citrulline
3 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Recruiting NCT03079401 Phase 1, Phase 2
4 Measures to Lower the Stress Response in Pediatric Cardiac Surgery Completed NCT00848393 Phase 2 Fentanyl (High Dose);Fentanyl (Low Dose);Fentanyl (Low Dose) + Dexmedetomidine
5 Hypertonic Saline Dextran in Pediatric Cardiac Surgery Completed NCT00199771 Phase 2 7.5% NaCl in 6% dextran 70 solution
6 Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow Active, not recruiting NCT01825369 Phase 1 IV L-carnitine
7 National Congenital Heart Disease Audit Unknown status NCT02303535
8 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
9 Infant Weight Gain With Trisomy 21 and CAVC Terminated NCT00327951
10 Optimal Timing for Repair of Left to Right Shunt Lesions Terminated NCT00229827
11 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
12 Evolution of Two Cohorts of Children (Univentricular and Bi-ventricular Heart) After Strapping of the Pulmonary Artery Completed NCT03047343
13 Acetaminophen for Oxidative Stress After Cardiopulmonary Bypass Completed NCT01228305 Not Applicable

Search NIH Clinical Center for Atrioventricular Septal Defect

Cochrane evidence based reviews: endocardial cushion defects

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Genetic Tests for Atrioventricular Septal Defect

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Genetic tests related to Atrioventricular Septal Defect:

# Genetic test Affiliating Genes
1 Atrioventricular Septal Defect 29
2 Atrioventricular Canal Defect 29
Sources

Anatomical Context for Atrioventricular Septal Defect

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MalaCards organs/tissues related to Atrioventricular Septal Defect:

41
Heart, Lung, Testes, Atrioventricular Node, Brain, Kidney, Breast
Sources

Publications for Atrioventricular Septal Defect

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Articles related to Atrioventricular Septal Defect:

(show top 50) (show all 483)
# Title Authors Year
1
Reoperation for left atrioventricular valve failure in repaired atrioventricular septal defect: Can more valves be preserved in the current era? ( 29968369 )
2018
2
Incidence and risk factors of post-operative arrhythmias and sudden cardiac death after atrioventricular septal defect (AVSD) correction: Up to 47years of follow-up. ( 29249442 )
2018
3
Echocardiographic assessment of left to right shunts: atrial septal defect, ventricular septal defect, atrioventricular septal defect, patent arterial duct. ( 29432197 )
2018
4
Surgery for partial atrioventricular septal defect with pulmonary hypertension in an adult dog. ( 29877312 )
2018
5
Coexistence of Right Ventricular Myxoma and Atrioventricular Septal Defect. ( 29310556 )
2018
6
One-stage definitive repair of complete atrioventricular septal defect and pulmonary atresia with major aortopulmonary collateral arteries. ( 29049668 )
2018
7
The CHSS Complete Atrioventricular Septal Defect Cohort: Baseline, Pre-Intervention Echocardiographic Characteristics. ( 29428621 )
2018
8
Annuloplasty band implantation in adults with partial atrioventricular septal defect: a propensity-matched study. ( 29069357 )
2018
9
Late arrhytmias after repair of atrioventricular septal defect: Down's Syndrome is not the culprit. ( 29407082 )
2018
10
Unilateral lung agenesis, hiatal hernia and atrioventricular septal defect: a rare combination of congenital anomalies. ( 29754141 )
2018
11
Identifying Patients with Atrioventricular Septal Defect in Down Syndrome Populations by Using Self-Normalizing Neural Networks and Feature Selection. ( 29649131 )
2018
12
Influence of staged repair and primary repair on outcomes in patients with complete atrioventricular septal defect and tetralogy of Fallot: a systematic review and meta-analysis. ( 29049707 )
2018
13
Clinical, echocardiographic and analytical parameters in patients with atrioventricular septal defect with and without Down syndrome. ( 29503025 )
2018
14
Large nonapical right ventricular diverticulum in a patient with atrioventricular septal defect. ( 29922027 )
2018
15
Does biventricular conversion bring survival benefits to patients with an unbalanced atrioventricular septal defect? ( 29365065 )
2018
16
Long-term outcomes following partial atrioventricular septal defect (AVSD) repair in Ireland. ( 29943216 )
2018
17
A review of the Nunn modified single patch technique for atrioventricular septal defect repair. ( 29770291 )
2018
18
Partial atrioventricular septal defect in infancy: don't we need to know more? ( 30104396 )
2018
19
Morphological Substrates for Atrial Arrhythmogenesis in a Heart With Atrioventricular Septal Defect. ( 30190677 )
2018
20
Proximal Isovelocity Surface Area Method for Diagnosing Isolated Pulmonary Vein Stenosis in a Case of Complete Atrioventricular Septal Defect With Increased Pulmonary Venous Blood Flow. ( 30272591 )
2018
21
Long-term outcomes in patients who underwent surgical correction for atrioventricular septal defect. ( 30297581 )
2018
22
Totally Endoscopic Surgical Repair of Partial Atrioventricular Septal Defect in Children: Two Cases. ( 30394955 )
2018
23
Staged Repair of Truncus Arteriosus Associated with Complete Atrioventricular Septal Defect. ( 30402397 )
2018
24
Edwards Sapien 3 transcatheter aortic valve implantation for management of severe aortic regurgitation in a teenage patient with corrected atrioventricular septal defect and progressive left ventricular dysfunction. ( 30461164 )
2018
25
Dysrhythmias in patients with a complete atrioventricular septal defect: From surgery to early adulthood. ( 30485659 )
2018
26
Prenatal Atrioventricular Septal Defect (AVSD) as a planned congenital heart disease with different outcome depending on the presence of the coexisting extracardiac abnormalities (ECA) and / or malformations (ECM). ( 30514144 )
2018
27
Sequential Melody Valve Insertion After Repair of Tetralogy of Fallot Atrioventricular Septal Defect. ( 29455823 )
2018
28
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect. ( 30007050 )
2018
29
Contemporary Outcomes After Repair of Isolated and Complex Complete Atrioventricular Septal Defect. ( 30009807 )
2018
30
Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog. ( 29722020 )
2018
31
Macroreentrant atrial tachycardia around the native common atrioventricular valve in a surgically corrected complete atrioventricular septal defect. ( 28339864 )
2017
32
Surgical repair of partial atrioventricular septal defect. ( 28523023 )
2017
33
Surgeons, valve repair in severely unbalanced atrioventricular septal defect, and the emperor's new clothes. ( 28967414 )
2017
34
Prophylactic Pulmonary Artery Reduction in a Young Female with Severe Pulmonary Hypertension from Complete Atrioventricular Septal Defect. ( 28154602 )
2017
35
Technical Performance Score: Predictor of Outcomes in Complete Atrioventricular Septal Defect Repair. ( 28648535 )
2017
36
Repair of complete atrioventricular septal defect with tetralogy of Fallot. ( 28164023 )
2017
37
Mid-term outcomes in unbalanced complete atrioventricular septal defect: role of biventricular conversion from single-ventricle palliation. ( 28521020 )
2017
38
Technical Performance Score Predicts Partial/Transitional Atrioventricular Septal Defect Outcomes. ( 29269131 )
2017
39
Right Dominant Atrioventricular Septal Defect: The Road to a Unified Model of Echocardiographic Interpretation. ( 29187108 )
2017
40
Successful atrioventricular valve repair improves long-term outcomes in children with unbalanced atrioventricular septal defect. ( 28743383 )
2017
41
Early pulmonary arterial hypertension immediately after closure of a ventricular or complete atrioventricular septal defect beyond 6months of age. ( 27866021 )
2017
42
Symptomatic partial and transitional atrioventricular septal defect repaired in infancy. ( 29288192 )
2017
43
Perioperative and Anesthetic Considerations in Atrioventricular Septal Defect. ( 28592182 )
2017
44
Repair of Atrioventricular Septal Defect and Transposition in Left Isomerism. ( 28359497 )
2017
45
Modified Single-Patch Technique Versus Two-Patch Technique for the Repair of Complete Atrioventricular Septal Defect: A Meta-Analysis. ( 28711966 )
2017
46
Propensity score matched analysis of partial atrioventricular septal defect repair in infancy. ( 29196540 )
2017
47
Decision-Making in Unbalanced Atrioventricular Septal Defect: Examining Another Piece of the Puzzle. ( 28696883 )
2017
48
Feasibility of Biventricular Repair in Right Dominant Unbalanced Atrioventricular Septal Defect: A New Echocardiographic Metric to Refine Surgical Decision-Making. ( 28696869 )
2017
49
Atrioventricular Nodal Reentrant Tachycardia With a Displaced His-Bundle in an Atrioventricular Canal Defect. ( 27616545 )
2017
50
Long-term outcomes of reoperations following repair of partial atrioventricular septal defect. ( 26920940 )
2016
Sources

Variations for Atrioventricular Septal Defect

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ClinVar genetic disease variations for Atrioventricular Septal Defect:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SMARCAL1 NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter) single nucleotide variant Pathogenic rs119473033 GRCh37 Chromosome 2, 217342939: 217342939
2 SMARCAL1 NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter) single nucleotide variant Pathogenic rs119473033 GRCh38 Chromosome 2, 216478216: 216478216
3 FOXP1 NM_032682.5(FOXP1): c.1702C> T (p.Pro568Ser) single nucleotide variant Benign/Likely benign, association rs147674680 GRCh37 Chromosome 3, 71019907: 71019907
4 FOXP1 NM_032682.5(FOXP1): c.1702C> T (p.Pro568Ser) single nucleotide variant Benign/Likely benign, association rs147674680 GRCh38 Chromosome 3, 70970756: 70970756
5 SMARCAL1 NM_001127207.1(SMARCAL1): c.723C> A (p.Cys241Ter) single nucleotide variant Pathogenic rs748106387 GRCh38 Chromosome 2, 216415427: 216415427
6 SMARCAL1 NM_001127207.1(SMARCAL1): c.723C> A (p.Cys241Ter) single nucleotide variant Pathogenic rs748106387 GRCh37 Chromosome 2, 217280150: 217280150
7 TBX5 NM_000192.3(TBX5): c.404T> G (p.Leu135Arg) single nucleotide variant Likely pathogenic rs1057519050 GRCh37 Chromosome 12, 114836484: 114836484
8 TBX5 NM_000192.3(TBX5): c.404T> G (p.Leu135Arg) single nucleotide variant Likely pathogenic rs1057519050 GRCh38 Chromosome 12, 114398679: 114398679
Sources

Expression for Atrioventricular Septal Defect

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Search GEO for disease gene expression data for Atrioventricular Septal Defect.
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Pathways for Atrioventricular Septal Defect

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Pathways related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.38 GATA4 GJA1 NKX2-5 TBX5
2
Cardiac Progenitor Differentiation 1
11.06 GATA4 NKX2-5 TBX5
3
Physiological and Pathological Hypertrophy of the Heart 1
10.77 EDN1 GATA4
4
Heart Development 1
10.68 GATA4 GATA6 NKX2-5 TBX1 TBX5
5
Cardiomyocyte Differentiation through BMP Receptors 64
10.66 GATA4 NKX2-5
6
HOP Signaling 64
10.03 GATA4 NKX2-5
Sources

GO Terms for Atrioventricular Septal Defect

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Cellular components related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane protein complex GO:0098797 8.62 EVC EVC2

Biological processes related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.86 EDN1 GATA4 GJA1 TBX5
2 response to lipopolysaccharide GO:0032496 9.82 EDN1 FOXP1 GJA1
3 cell development GO:0048468 9.71 GATA4 GATA6 GDF1
4 heart looping GO:0001947 9.7 GATA4 GJA1 NKX2-5
5 ventricular septum development GO:0003281 9.65 GATA4 TBX5
6 thyroid gland development GO:0030878 9.64 NKX2-5 TBX1
7 anatomical structure formation involved in morphogenesis GO:0048646 9.63 GATA4 GATA6
8 tissue development GO:0009888 9.63 GATA4 GATA6
9 blood vessel morphogenesis GO:0048514 9.63 EDN1 GJA1 TBX1
10 negative regulation of cardiac muscle cell proliferation GO:0060044 9.62 GJA1 TBX5
11 middle ear morphogenesis GO:0042474 9.62 EDN1 TBX1
12 cardiac muscle tissue development GO:0048738 9.61 GATA6 NKX2-5
13 adult heart development GO:0007512 9.61 GJA1 NKX2-5
14 outflow tract septum morphogenesis GO:0003148 9.61 GATA6 NKX2-5 TBX1
15 cardiac ventricle morphogenesis GO:0003208 9.58 GATA4 NKX2-5
16 ventricular cardiac muscle cell development GO:0055015 9.58 NKX2-5 NKX2-6
17 embryonic heart tube development GO:0035050 9.58 GJA1 NKX2-5 NKX2-6
18 pericardium development GO:0060039 9.57 NKX2-6 TBX5
19 intestinal epithelial cell differentiation GO:0060575 9.55 GATA4 GATA6
20 pharyngeal system development GO:0060037 9.54 NKX2-5 NKX2-6 TBX1
21 atrial septum morphogenesis GO:0060413 9.5 GATA4 NKX2-5 TBX5
22 atrial cardiac muscle cell development GO:0055014 9.49 NKX2-5 NKX2-6
23 bundle of His development GO:0003166 9.48 NKX2-5 TBX5
24 cardiac muscle cell differentiation GO:0055007 9.46 GATA4 GATA6 NKX2-5 TBX5
25 endocardial cushion development GO:0003197 9.43 CRELD1 GATA4 TBX5
26 positive regulation of cardioblast differentiation GO:0051891 9.26 GATA4 GATA6 NKX2-5 TBX5
27 heart development GO:0007507 9.23 EDN1 GATA4 GATA6 GJA1 NKX2-5 NKX2-6
28 regulation of transcription, DNA-templated GO:0006355 10.14 FOXP1 GATA4 GATA6 NKX2-5 NKX2-6 TBX1
29 positive regulation of transcription by RNA polymerase II GO:0045944 10.05 EDN1 GATA4 GATA6 NKX2-5 NKX2-6 TBX1
30 positive regulation of transcription, DNA-templated GO:0045893 10 GATA4 GATA6 NKX2-5 TBX1 TBX5

Molecular functions related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.8 FOXP1 GATA4 GATA6 NKX2-5 NKX2-6 TBX1
2 transcription factor binding GO:0008134 9.62 GATA4 GATA6 NKX2-5 TBX5
3 DNA-binding transcription factor activity GO:0003700 9.5 FOXP1 GATA4 GATA6 NKX2-5 NKX2-6 TBX1
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.46 GATA4 NKX2-5 NKX2-6 TBX5
5 enhancer sequence-specific DNA binding GO:0001158 9.37 GATA4 GATA6
6 sequence-specific DNA binding GO:0043565 9.17 FOXP1 GATA4 GATA6 NKX2-5 NKX2-6 TBX1
Sources

Sources for Atrioventricular Septal Defect

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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